Canonical Allele Identifier: CA035615

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 431556
• ClinVar RCV Id: RCV000497099 ; RCV000588847 ; RCV000707666 ; RCV000775279 ; RCV004023325 ; RCV003226311
• dbSNP Id: rs368257906
• ExAC: 1:55523187 G / A
• gnomAD v2: 1-55523187-G-A
• gnomAD v3: 1-55057514-G-A
• gnomAD v4: 1-55057514-G-A
• MyVariant Identifiers: chr1:g.55523187G>A (hg19) ; chr1:g.55057514G>A (hg38)
• PubMed: PMID:22095935

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55057514G>A , CM000663.2:g.55057514G>A	GRCh38
NC_000001.10:g.55523187G>A , CM000663.1:g.55523187G>A	GRCh37
NC_000001.9:g.55295775G>A	NCBI36
NG_009061.1:g.22968G>A , LRG_275:g.22968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1180G>A	ENSP00000501161.2:p.Gly394Ser
ENST00000710286.1:c.1537G>A	ENSP00000518176.1:p.Gly513Ser
ENST00000673903.1:c.805G>A	ENSP00000501257.1:p.Gly269Ser
ENST00000302118.5:c.1180G>A MANE Select	ENSP00000303208.5:p.Gly394Ser
ENST00000490692.1:n.1904G>A
NM_174936.3:c.1180G>A , LRG_275t1:c.1180G>A	NP_777596.2:p.Gly394Ser
NR_110451.1:n.839G>A
XM_011541193.1:c.301G>A	XP_011539495.1:p.Gly101Ser
NM_174936.4:c.1180G>A MANE Select	NP_777596.2:p.Gly394Ser
NR_110451.2:n.839G>A